Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.
Dr. Anderson’s research interests focus on the molecular and cellular mechanisms that govern the development of the mammalian forebrain. In his research on the development of the cerebral cortex, he is particularly interested in understanding the molecular underpinnings behind the fate determination and axon targeting of subclasses of GABAergic interneurons implicated in the neuropathology of schizophrenia.
The principal goal of Dr. Simmons' research program is to elucidate the underlying molecular mechanisms that link an aberrant intrauterine milieu to the later development of diseases in adulthood. She has made many seminal contributions to the understanding of the role that epigenetic modifications play in developmental programming of obesity and type 2 diabetes.
Dr. Ischiropoulos's research objectives are to develop and test novel therapeutics for long-chain fatty acid oxidation (LCFA) disorders, a collection of inherited metabolic diseases that affect the heart, liver and muscle. A second area of interest is the resolution of the nitric oxide signaling pathways at the proteome level in the cardiovascular and neuronal systems.
For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers at Children's Hospital of Philadelphia (CHOP), mutations in this gene, which encodes an essential part of the mitochondrial motor known as ATP synthase that generates cellular energy, are much more variable than previously thought.
New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders—complex conditions with severe energy deficiency for which no proven effective treatments exist. Future clinical research is needed to explore whether the drug, cysteamine bitartrate, will meaningfully benefit patients.